Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings [PDF]
Frontiers in Genetics, 2023 Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in coding exonic regions of the genome in a single ...
Nadja Louw +4 more
doaj +4 more sources
Monogenic disorders as mimics of juvenile idiopathic arthritis [PDF]
Pediatric Rheumatology Online Journal, 2022 Background Juvenile idiopathic arthritis is the most common chronic rheumatic disease of childhood. The term JIA encompasses a heterogenous group of diseases.
Laura Furness +6 more
doaj +4 more sources
Genetic Determinants of Wound Healing: Monogenic Disorders and Polygenic Influence [PDF]
Cells(1) Background: Wound healing is a highly coordinated process encompassing hemostasis, inflammation, angiogenesis, keratinocyte migration, collagen deposition, and extracellular matrix remodeling.
Stephanie M. Mueller +5 more
doaj +2 more sources
Monogenic Mitochondrial Disorders [PDF]
New England Journal of Medicine, 2012 Rare monogenic disorders of mitochondria have shed light on mitochondrial function, and the development of therapeutic agents for these disorders may be applicable to more common sporadic diseases characterized by mitochondrial dysfunction.
Werner J H Koopman, Peter H G M Willems
exaly +4 more sources
Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives [PDF]
PharmaceuticsMonogenic disorders are a group of human diseases caused by mutations in single genes. While some disease-altering treatments offer relief and slow the progression of certain conditions, the majority of monogenic disorders still lack effective therapies.
Marco A. Luís +5 more
doaj +2 more sources
CRISPR-dependent base editing as a therapeutic strategy for rare monogenic disorders [PDF]
Frontiers in Genome EditingRare monogenic disorders are caused by mutations in single genes and have an incidence rate of less than 0.5%. Due to their low prevalence, these diseases often attract limited research and commercial interest, leading to significant unmet medical needs.
Júlia-Jié Cabré-Romans +3 more
doaj +2 more sources
Antisense oligonucleotide therapies for monogenic disorders. [PDF]
Med GenetAbstract Antisense oligonucleotides (ASOs) are a promising therapeutic modality for monogenic disorders, offering precise RNA-targeting strategies to modulate gene expression. Despite challenges in delivery, toxicity, and off-target effects, ASO therapies have advanced rapidly, with several approved treatments and numerous candidates in ...
Krey-Grauert I, Ferro I, Wagner M.
europepmc +3 more sources
Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M) [PDF]
Frontiers in Reproductive Health, 2023 Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Genetic
Firuza Parikh +6 more
doaj +2 more sources
Genes and Microbiota Interaction in Monogenic Autoimmune Disorders
Biomedicines, 2023 Monogenic autoimmune disorders represent an important tool to understand the mechanisms behind central and peripheral immune tolerance. Multiple factors, both genetic and environmental, are known to be involved in the alteration of the immune activation ...
Federica Costa +9 more
doaj +4 more sources
Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders
Bioengineering, 2022 The majority of monogenic liver diseases are autosomal recessive disorders, with few being sex-related or co-dominant. Although orthotopic liver transplantation (LT) is currently the sole therapeutic option for end-stage patients, such an invasive ...
Mahsa Ghasemzad +9 more
doaj +3 more sources